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Causes Mutations in the fibrillin-2 gene, in chromosome 5q23, or the fibrillin-1 gene, at chromosome 15q21.1 Arachnodactyly (" spider fingers ") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot.
Facial features (A), left hand and feet showing broad thumb and big toes (B, C) and X-ray of both hands showing short broad thumbs (D). (Limb Malformations & Skeletal Dysplasia) Rubinstein–Taybi syndrome presents itself from birth, and is usually hallmarked by delayed physical and cognitive growth. [citation needed]
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare genetic limb malformation syndrome which is characterized by thumb triphalangy, polysyndactyly of the hand and foot, and hypoplasia/aplasia of the tibia bone.
Adducted thumb syndrome recessive form is a rare disease affecting multiple systems causing malformations of the palate, thumbs, and upper limbs.The name Christian syndrome derives from Joe. C. Christian, the first person to describe the condition.
Small feet and hands, small shoulders accompanied with short clavicles, clinodactyly, pectus excavatum, mild limb shortening, cardiomegaly, and pulmonic stenosis murmur have also been reported. [ 1 ] [ 2 ] It was first discovered when D W Hollister et al. described 4 affected members belonging to a 3-generation family.
Preaxial polysyndactyly, in which the duplicated digit is on the side of the thumb or big toe, is less common. [3] Crossed polysyndactyly, in which polysyndactyly is present on the hand and foot, and is preaxial on one and postaxial on the other, is extremely rare and often occurs with other genetic disorders.
Bunion is an abnormal bony mass that forms on the big toe and points outwards. This deformity is unsightly and painful. When the big toe enlarges at the base, it can force the other toes to crowd against each other. Over time, the big toe pushes outwards and alters the normal outline of the foot.
Symbrachydactyly is a congenital abnormality, characterized by limb anomalies consisting of brachydactyly, cutaneous syndactyly and global hypoplasia of the hand or foot. [1] In many cases, bones will be missing from the fingers and some fingers or toes may be missing altogether.